Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the α-galactosidase A Gene.

Abstract

A 66-year-old Japanese man was diagnosed with interstitial nephritis on a renal biopsy at 45 years of age and began to receive hemodialysis at 65 years of age. He was suspected of having Fabry disease as a result of a screening study for Fabry disease performed in hemodialysis patients. He had an E66Q mutation in the α-galactosidase A gene. We conducted an electron microscopic examination of a renal biopsy specimen obtained when the patient was diagnosed with chronic renal failure at 45 years of age in order to elucidate the pathogenicity of the E66Q mutation. Interestingly, an electron microscopic examination of the renal biopsy specimen indicated no characteristic findings of Fabry disease.

• Authors: Atsushi Satomura, Takayuki Fujita, Tomohiro Nakayama, Hiroyuki Kusano, Eiichi Takayama, Hiroaki Hamada, Toshiharu Maruyama
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 54 Issue 14 Pg. 1819-24 ( 2015) ISSN: 1349-7235 [Electronic] Japan
• PMID: 26179544 (Publication Type: Case Reports, Journal Article)

Chemical References

• alpha-Galactosidase

Topics

• Aged
• Asian People (genetics)
• Enzyme Activation
• Fabry Disease (diagnosis, genetics)
• Humans
• Kidney Failure, Chronic (diagnosis, etiology, genetics)
• Male
• Microscopy, Electron
• Mutation
• Nephritis, Interstitial (complications, diagnosis)
• Renal Dialysis
• Renal Insufficiency, Chronic (genetics)
• alpha-Galactosidase (genetics)